Aliases for PSPH Gene
External Ids for PSPH Gene
Previous HGNC Symbols for PSPH Gene
Previous GeneCards Identifiers for PSPH Gene
The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for PSPH Gene
PSPH (Phosphoserine Phosphatase) is a Protein Coding gene. Diseases associated with PSPH include Phosphoserine Phosphatase Deficiency and Serine Deficiency. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include calcium ion binding and magnesium ion binding.
UniProtKB/Swiss-Prot for PSPH Gene
Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.